MCID: NTR006
MIFTS: 25

Neutrophil Immunodeficiency Syndrome

Categories: Genetic diseases, Immune diseases, Blood diseases, Rare diseases

Aliases & Classifications for Neutrophil Immunodeficiency Syndrome

MalaCards integrated aliases for Neutrophil Immunodeficiency Syndrome:

Name: Neutrophil Immunodeficiency Syndrome 53 55 71 28 13 69
Neuid 71

Characteristics:

Orphanet epidemiological data:

55
neutrophil immunodeficiency syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 55  
Rare immunological diseases


External Ids:

OMIM 53 608203
Orphanet 55 ORPHA183707
UMLS via Orphanet 70 C1842398
ICD10 via Orphanet 33 D71
MedGen 39 C1842398
MeSH 41 D007153
SNOMED-CT via HPO 65 111583006 234532001
UMLS 69 C1842398

Summaries for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot : 71 Neutrophil immunodeficiency syndrome: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing.

MalaCards based summary : Neutrophil Immunodeficiency Syndrome, is also known as neuid, and has symptoms including immunodeficiency, leukocytosis and poor wound healing. An important gene associated with Neutrophil Immunodeficiency Syndrome is RAC2 (Rac Family Small GTPase 2), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. Affiliated tissues include neutrophil.

Wikipedia : 72 Neutrophil immunodeficiency syndrome is a condition caused by mutations in the Rac2... more...

Description from OMIM: 608203

Related Diseases for Neutrophil Immunodeficiency Syndrome

Symptoms & Phenotypes for Neutrophil Immunodeficiency Syndrome

Clinical features from OMIM:

608203

Human phenotypes related to Neutrophil Immunodeficiency Syndrome:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 leukocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001974
3 poor wound healing 55 31 hallmark (90%) Very frequent (99-80%) HP:0001058
4 abnormality of neutrophil physiology 55 31 hallmark (90%) Very frequent (99-80%) HP:0011990

Drugs & Therapeutics for Neutrophil Immunodeficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Neutrophil Immunodeficiency Syndrome

Genetic Tests for Neutrophil Immunodeficiency Syndrome

Genetic tests related to Neutrophil Immunodeficiency Syndrome:

# Genetic test Affiliating Genes
1 Neutrophil Immunodeficiency Syndrome 28 RAC2

Anatomical Context for Neutrophil Immunodeficiency Syndrome

MalaCards organs/tissues related to Neutrophil Immunodeficiency Syndrome:

38
Neutrophil

Publications for Neutrophil Immunodeficiency Syndrome

Articles related to Neutrophil Immunodeficiency Syndrome:

# Title Authors Year
1
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. ( 10758162 )
2000

Variations for Neutrophil Immunodeficiency Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Neutrophil Immunodeficiency Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 RAC2 p.Asp57Asn VAR_017452 rs74315507

ClinVar genetic disease variations for Neutrophil Immunodeficiency Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAC2 NM_002872.4(RAC2): c.169G> A (p.Asp57Asn) single nucleotide variant Pathogenic rs74315507 GRCh37 Chromosome 22, 37628897: 37628897
2 RAC2 NM_002872.4(RAC2): c.184G> A (p.Glu62Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 22, 37232842: 37232842

Expression for Neutrophil Immunodeficiency Syndrome

Search GEO for disease gene expression data for Neutrophil Immunodeficiency Syndrome.

Pathways for Neutrophil Immunodeficiency Syndrome

Pathways related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 RAC2 RHOD
2
Show member pathways
12.43 RAC2 RHOD
3
Show member pathways
12.4 RAC2 RHOD
4
Show member pathways
12.36 RAC2 RHOD
5
Show member pathways
12.3 RAC2 RHOD
6
Show member pathways
12.26 RAC2 RHOD
7
Show member pathways
12.23 RAC2 RHOD
8
Show member pathways
11.78 RAC2 RHOD
9 11.61 RAC2 RHOD
10
Show member pathways
11.37 RAC2 RHOD
11 11.3 RAC2 RHOD
12 11.22 RAC2 RHOD
13 10.81 RAC2 RHOD
14
Show member pathways
10.69 RAC2 RHOD
15 10.55 RAC2 RHOD
16 10.36 RAC2 RHOD

GO Terms for Neutrophil Immunodeficiency Syndrome

Biological processes related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 8.96 RAC2 RHOD
2 regulation of small GTPase mediated signal transduction GO:0051056 8.62 RAC2 RHOD

Molecular functions related to Neutrophil Immunodeficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 8.96 RAC2 RHOD
2 GTPase activity GO:0003924 8.62 RAC2 RHOD

Sources for Neutrophil Immunodeficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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